Q44* (p.Gln44Ter) variant of TBX20 (T-box transcription factor TBX20)
Q44* (p.Gln44Ter) in TBX20 (T-box transcription factor TBX20) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
Q44* (p.Gln44Ter) variant details
- p.Gln44Ter
- rs2546997554
- ClinGen CA367265427
- ClinVar RCV002385405
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available